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    C7orf78 chromosome 7 open reading frame 78 [ Homo sapiens (human) ]

    Gene ID: 102725191, updated on 10-Mar-2024

    Summary

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    Official Symbol
    C7orf78provided by HGNC
    Official Full Name
    chromosome 7 open reading frame 78provided by HGNC
    Primary source
    HGNC:HGNC:55185
    See related
    Ensembl:ENSG00000226690
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See C7orf78 in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (12483344..12542188)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (12614225..12673220)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12522970..12581814)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375155 Neighboring gene CTAGE family member 5, ER export factor Neighboring gene uncharacterized LOC105375156 Neighboring gene small RNA binding exonuclease protection factor La like 5, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:12536548-12537176 Neighboring gene taste 2 receptor member 2 (gene/pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25664 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12596820-12598019 Neighboring gene uncharacterized LOC107986768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25665 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:12635263-12636462 Neighboring gene scinderin Neighboring gene Sharpr-MPRA regulatory region 10361 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:12700000-12700549 Neighboring gene uncharacterized LOC105375157 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12714709-12715908

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    Genotypes

    General gene information

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    Homology

    Clone Names

    • AC005281.1

    General protein information

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    Preferred Names
    uncharacterized protein LOC102725191

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001386512.1 → NP_001373441.1  uncharacterized protein LOC102725191 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005281, AC013470, AC092064
      Consensus CDS
      CCDS94056.1
      UniProtKB/TrEMBL
      A0A1B0GW04
      Related
      ENSP00000490721.1, ENST00000635746.1
      Conserved Domains (1) summary
      cl10011
      Location:47 → 164
      Periplasmic_Binding_Protein_type1; Type 1 periplasmic binding fold superfamily

    2. NM_001386513.1 → NP_001373442.1  uncharacterized protein LOC102725191 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005281, AC013470, AC092064

    3. NM_001386514.1 → NP_001373443.1  uncharacterized protein LOC102725191 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005281, AC013470, AC092064
      Consensus CDS
      CCDS94055.1
      UniProtKB/TrEMBL
      A0A1B0GVB3
      Related
      ENSP00000490444.1, ENST00000636804.2
      Conserved Domains (1) summary
      cl10011
      Location:99 → 216
      Periplasmic_Binding_Protein_type1; Type 1 periplasmic binding fold superfamily

    RNA

    1. NR_136261.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CR745650, DB235670, DB451166
      Related
      ENST00000418428.6

    2. NR_136262.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CN401267, DB235670

    3. NR_136263.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC013470, AC092064, DB235670
      Related
      ENST00000424453.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      12483344..12542188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419720.1 → XP_047275676.1  uncharacterized protein LOC102725191 isoform X1

    2. XM_047419721.1 → XP_047275677.1  uncharacterized protein LOC102725191 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      12614225..12673220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356998.1 → XP_054212973.1  uncharacterized protein LOC102725191 isoform X1

    2. XM_054356999.1 → XP_054212974.1  uncharacterized protein LOC102725191 isoform X2

    3. XM_054357000.1 → XP_054212975.1  uncharacterized protein LOC102725191 isoform X3

    Nucleotide Protein
    Heading Accession and Version

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